Geneeskunde, genetica en het toeval

by Breuning, M.H.
Published

Case 26-2011: A Boy with a Complex Kidney Cyst

by Breuning, M.H.
Published 2012

Activation of cytotoxic T lymphocytes in HLA-A, -B, and -C identical responder-stimulator pairs. II. New subtypes of HLA-Bw35.

by Goulmy, E.A.J.M., Breuning, M.H., Breur, B., Engelsma, M., Ivanyi, P.
Published

Impact of prenatal technologies on the sex ratio in India: an overview

by Madan, K., Breuning, M.H.
Published 2014

Deletion of the 3q26 region including the EVI1 and MDS1 genes in a neonate with congenital thrombocytopenia and subsequent aplastic anaemia

by Nielsen, M., Vermont, C.L., Aten, E., Ruivenkamp, C.A.L., Herrewegen, F. van, Santen, G.W.E., Breuning, M.H.
Published 2012

Dose-Dependent Effects of Sirolimus on mTOR Signaling and Polycystic Kidney Disease

by Novalic, Z., Wal, A.M. van der, Leonhard, W.N., Koehl, G., Breuning, M.H., Geissler, E.K., Heer, E. de, Peters, D.J.M.
Published 2012

Myocardial Structural Alteration and Systolic Dysfunction in Preclinical Hypertrophic Cardiomyopathy Mutation Carriers

by Yiu, K.H., Atsma, D.E., Delgado, V., Ng, A.C.T., Witkowski, T.G., Ewe, S.H., Auger, D., Holman, E.R., Mil, A.M. van, Breuning, M.H., Tse, H.F., Bax, J.J., Schalij, M.J., Marsan, N.A.
Published 2012

The Jumping SHOX Gene-Crossover in the Pseudoautosomal Region Resulting in Unusual Inheritance of Leri-Weill Dyschondrosteosis

by Kant, S.G., Kamp, H.J. van der, Kriek, M., Bakker, E., Bakker, B., Hoffer, M.J.V., Bunderen, P. van, Losekoot, M., Maas, S.M., Wit, J.M., Rappold, G., Breuning, M.H.
Published 2011

Altered Hippo signalling in polycystic kidney disease

by Happe, H., Wal, A.M. van der, Leonhard, W.N., Kunnen, S.J., Breuning, M.H., Heer, E. de, Peters, D.J.M.
Published 2011

LRP5 variants may contribute to ADPKD

by Cnossen, W.R., Morsche, R.H.M.T., Hoischen, A., Gilissen, C., Venselaar, H., Mehdi, S., Bergmann, C., Losekoot, M., Breuning, M.H., Peters, D.J.M., Veltman, J.A., Drenth, J.P.H.
Published 2016

Cyst expansion and regression in a mouse model of polycystic kidney disease

by Happe, H., Wal, A.M. van der, Salvatori, D.C.F., Leonhard, W.N., Breuning, M.H., Heer, E. de, Peters, D.J.M.
Published 2013

Exome Sequencing Identifies A Branch Point Variant in AarskogScott Syndrome

by Aten, E., Sun, Y., Almomani, R., Santen, G.W.E., Messemaker, T., Maas, S.M., Breuning, M.H., Dunnen, J.T. den
Published 2013

A decade of molecular genetic testing for MODY: a retrospective study of utilization in The Netherlands

by Weinreich, S.S., Bosma, A., Henneman, L., Rigter, T., Spruijt, C.M.J., Grimbergen, A.J.E.M.A., Breuning, M.H., Koning, E.J.P. de, Losekoot, M., Cornel, M.C.
Published 2015

Detecting copy number changes in genomic DNA - MAPH and MLPA

by White, S.J.
Published 2005

Copeptin, a surrogate marker for vasopressin, is associated with kidney function decline in subjects with autosomal dominant polycystic kidney disease

by Boertien, W.E., Meijer, E., Zittema, D., Dijk, M.A. van, Rabelink, T.J., Breuning, M.H., Struck, J., Bakker, S.J.L., Peters, D.J.M., Jong, P.E. de, Gansevoort, R.T.
Published 2012

Inhibition of Activin Signaling Slows Progression of Polycystic Kidney Disease

by Leonhard, W.N., Kunnen, S.J., Plugge, A.J., Pasternack, A., Jianu, S.B.T., Veraar, K., Bouazzaoui, F. el, Hoogaars, W.M.H., Dijke, P. ten, Breuning, M.H., Heer, E. de, Ritvos, O., Peters, D.J.M.
Published 2016

An unanticipated copy number variant ofchromosome 15 disrupting SMAD3 reveals a three-generation family at serious risk for aortic dissection

by Hilhorst-Hofstee, Y., Scholte, A.J.H.A., Rijlaarsdam, M.E.B., Haeringen, A. van, Kroft, L.J., Reijnierse, M., Ruivenkamp, C.A.L., Versteegh, M.I.M., Pals, G., Breuning, M.H.
Published 2013

Curcumin inhibits cystogenesis by simultaneous interference of multiple signaling pathways: in vivo evidence from a Pkd1-deletion model

by Leonhard, W.N., Wal, A. van der, Novalic, Z., Kunnen, S.J., Gansevoort, R.T., Breuning, M.H., Heer, E. de, Peters, D.J.M.
Published 2011

Myocardial structural alteration and systolic dysfunction in preclinical hypertrophic cardiomyopathy mutation carriers

by Yiu K.H., Atsma D.E., Delgado V., Ng A.C.T., Witkowski T.G., Ewe S.H., Auger D., Holman E.R., van Mil A.M., Breuning M.H., Tse H.F., Bax J.J., Schalij M.J., Marsan N.A.
Published 2019

GPSM2 and Chudley-McCullough Syndrome: A Dutch Founder Variant Brought to North America

by Almomani, R., Sun, Y., Aten, E., Hilhorst-Hofstee, Y., Peeters-Scholte, C.M.P.C.D., Haeringen, A. van, Hendriks, Y.M.C., Dunnen, J.T. den, Breuning, M.H., Kriek, M., Santen, G.W.E.
Published 2013